Condition: Cardiomyopathy, Dilated, 1g


rs139517732 in TTN gene and Cardiomyopathy, Dilated, 1g PMID 11788824 2002 Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy.

PMID 11846417 2002 Titin mutations as the molecular basis for dilated cardiomyopathy.

PMID 16465475 2005 Functional analysis of titin/connectin N2-B mutations found in cardiomyopathy.

rs1060500503 in TTN-AS1;TTN gene and Cardiomyopathy, Dilated, 1g PMID 25589632 2015 Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease.

PMID 23975875 2013 Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy.

PMID 27813223 2017 Truncating titin mutations are associated with a mild and treatable form of dilated cardiomyopathy.

PMID 25163546 2015 Atlas of the clinical genetics of human dilated cardiomyopathy.

PMID 24395473 2014 Atypical phenotypes in titinopathies explained by second titin mutations.

PMID 18948003 2008 Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD).

PMID 22335739 2012 Truncations of titin causing dilated cardiomyopathy.

PMID 17444505 2007 C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy.

PMID 27532257 2017 Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.

PMID 16465475 2005 Functional analysis of titin/connectin N2-B mutations found in cardiomyopathy.

PMID 11846417 2002 Titin mutations as the molecular basis for dilated cardiomyopathy.

PMID 11788824 2002 Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy.

PMID 25739468 2015 Biophysical characterization of naturally occurring titin M10 mutations.

PMID 12145747 2002 Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin.

PMID 15728284 2005 Titinopathies and extension of the M-line mutation phenotype beyond distal myopathy and LGMD2J.

PMID 28416588 2017 Association between mutation status and left ventricular reverse remodelling in dilated cardiomyopathy.

PMID 26735901 2016 Shared Genetic Predisposition in Peripartum and Dilated Cardiomyopathies.

PMID 28045975 2017 Titin Truncating Variants in Dilated Cardiomyopathy - Prevalence and Genotype-Phenotype Correlations.

PMID 25448463 2014 Nonsense mutations in BAG3 are associated with early-onset dilated cardiomyopathy in French Canadians.

PMID 26315439 2015 HEART DISEASE. Titin mutations in iPS cells define sarcomere insufficiency as a cause of dilated cardiomyopathy.

PMID 24105469 2014 Recessive TTN truncating mutations define novel forms of core myopathy with heart disease.

PMID 27868403 2017 Clinical and Pathological Findings of a Korean Family with Pathogenic Variants of the TTN Gene.

PMID 28611029 2017 Whole Exome Sequencing Identifies Truncating Variants in Nuclear Envelope Genes in Patients With Cardiovascular Disease.

PMID 23486992 2014 Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure.

PMID 22526018 2012 Next generation sequencing for molecular diagnosis of neuromuscular diseases.

PMID 25500009 2015 New disease allele and de novo mutation indicate mutational vulnerability of titin exon 343 in hereditary myopathy with early respiratory failure.

PMID 24636144 2014 Hereditary myopathy with early respiratory failure is associated with misfolding of the titin fibronectin III 119 subdomain.

PMID 23606733 2014 Hereditary myopathy with early respiratory failure: occurrence in various populations.

PMID 28877744 2017 Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy.

PMID 25214167 2014 MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples.

PMID 24980681 2014 A rising titan: TTN review and mutation update.

PMID 24444549 2014 A new disease allele for the p.C30071R mutation in titin causing hereditary myopathy with early respiratory failure.

rs1057518195 in TTN;TTN-AS1 gene and Cardiomyopathy, Dilated, 1g PMID 24395473 2014 Atypical phenotypes in titinopathies explained by second titin mutations.

PMID 23975875 2013 Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy.

PMID 25589632 2015 Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease.

PMID 18948003 2008 Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD).

PMID 27813223 2017 Truncating titin mutations are associated with a mild and treatable form of dilated cardiomyopathy.

PMID 26084686 2015 Genetics and genotype-phenotype correlations in Finnish patients with dilated cardiomyopathy.

PMID 22335739 2012 Truncations of titin causing dilated cardiomyopathy.

PMID 26701604 2015 Prevalence of Titin Truncating Variants in General Population.

PMID 21520333 2011 LOVD v.2.0: the next generation in gene variant databases.

PMID 23418287 2013 Exome sequencing and genome-wide linkage analysis in 17 families illustrate the complex contribution of TTN truncating variants to dilated cardiomyopathy.

PMID 17444505 2007 C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy.

PMID 29057560 2018 The first titin (c.59926 + 1G > A) founder mutation associated with dilated cardiomyopathy.

PMID 24119082 2013 Poor prognosis of rare sarcomeric gene variants in patients with dilated cardiomyopathy.

PMID 26899768 2016 Genetic basis of familial dilated cardiomyopathy patients undergoing heart transplantation.

PMID 25163546 2015 Atlas of the clinical genetics of human dilated cardiomyopathy.

PMID 27532257 2017 Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.

PMID 27353043 2016 Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders.